A complex unit for a complex disease: the HCM-Family Unit

Hypertrophic cardiomyopathy (HCM) is a group of heterogeneous disorders that are most commonly passed on in a heritable manner. It is a relatively rare disease around the globe, but due to increased rates of consanguinity within the Kingdom of Saudi Arabia, we speculate a high incidence of undiagnosed cases. The aim of this paper is to elucidate a systematic approach in dealing with HCM patients and since HCM has variable presentation, we have summarized differentials for diagnosis and how different subtypes and genes can have an impact on the clinical picture, management and prognosis. Moreover, we propose a referral multi-disciplinary team HCM-Family Unit in Saudi Arabia and an integrated role in a network between King Faisal Hospital and Inherited and Rare Cardiovascular Disease Unit-Monaldi Hospital, Italy (among the 24 excellence centers of the European Reference Network (ERN) GUARD-Heart). Graphical Abstract

Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy

Introduction: Biotinidase deficiency (BD) is an autosomal recessive disease causing a defect in the biotin-releasing enzyme. Newborn screening (NBS) allows early diagnosis and treatment, ensuring excellent prognosis. The aim of this study was to describe our experience in the diagnosis, treatment, and follow-up showing key strategies and unsolved questions of the management of BD patients.Methods: We analyzed data of patients identified by the Regional Centre for Newborn Screening of Verona and followed by the Inherited Metabolic Disease Unit of Verona and Neonatal Intensive Care Unit of Bolzano, Italy, from 2014 to 2020.Results: Thirty-seven patients were diagnosed by NBS (five profound and 32 partial BD), with a total incidence of 1:5,996. All were started on biotin at diagnosis and presented no symptoms at follow-up. Analysis of parents and siblings led to identification of five asymptomatic patients with partial BD: one asymptomatic parent and four young siblings. Genetic analysis of the BTD gene identified 17 different genotypes and one mutation not previously known.Discussion: Our data confirm that NBS introduction had a dramatic impact on BD diagnosis, and the incidence has increased significantly compared to other areas. Partial defects are more common than profound and have a distinctive genotype. Partial BD treatment is still controversial even at what dose of biotin and for how long. At the end, BD treatment is very easy and inexpensive and prevents severe neurological damage. Sharing experiences is essential to achieving guidelines for treatment and follow-up and a better genotype–phenotype correlation.

New approaches in providing care to surgical patients under conditions of COVID-19 pandemic on the basis of Military medical clinical center of Central region

Annotation. Nowadays, in coronavirus disease pandemic, the conditions for emergency surgery have changed. The aim of the work was to improve the provision of emergency surgical care under conditions of COVID-19 pandemic by developing and implementing clinical pathway of patients, using the remodeled infectious disease unit with a specially equipped operating room. To improve emergency surgical care under conditions of coronavirus pandemic, clinical pathways have been developed and implemented for management of patients with acute surgical pathology: the pathway of the patient requiring emergency surgery with suspected COVID-19 during self-presentation, the patient delivered by ambulance, in mass admission of patients, in admission of servicemen. Part of the hospital stock was restructured into isolated off-line infectious disease unit for treatment of patients with COVID-19 in a separate two-story building. Specially equipped operating room of the off-line infectious disease unit has separate entrances for patients and medical staff, which ensures the distribution of patient flows in the operating room. Clinical pathways for providing emergency care to patients with acute surgical pathology, developed by the authors, made it possible to divide them into flows and minimize possible risks of coronavirus infection in medical staff and other groups of patients. Under pandemic conditions, restructuring of hospital stock along with creation of off-line units with the use of existing staff seems to be warranted. Appropriate training of medical personnel in the restructured units working with COVID-19 infection as well as the development of rotational system mechanism for medical personnel are urgently required. Clinical results of treatment of patients with acute surgical pathology in the off-line infectious disease unit for patients with COVID-19 will be the object of future studies.

Resultados de la cirugía en enfermedad inflamatoria intestinal: experiencia en un centro de atención terciaria

Introduction. The development of the therapeutic arsenal in inflammatory bowel disease has reduced the need for surgery in these patients. However, in certain cases, it continues to be the treatment of choice. In addition, the patients who required surgery intervention are more complex due to the therapy received (corticosteroids and immunomodulators) and the time of evolution of the disease. Materials and methods. We included patients under stable follow-up, in the Inflammatory Bowel Disease Unit of our center, who required surgery between January 2015 and November 2016 for treatment of the underlying pathology. Demographic and baseline disease variables were collected from each patient, as well as those related to the results and safety of the surgery, assessing both early and delayed complications. Results. During the study period, among the 998 patients with stable follow-up in the Inflammatory Bowel Disease Unit, 26 of them underwent surgery representing 2.6% of the sample. 85% of patients were on treatment with an immunomodulator (thiopurines, antiTNF or both) at the time of surgery. Five patients (20%) presented early postoperative complications, most of them mild (Claiven-Dindo I 79.2% and II 16.7%), of whom three (60%) were on combined treatment with azathioprine and an anti-TNF. No deferred complications of surgery were observed during its subsequent evolution. In the patients who underwent abdominal surgery, multivariate analysis showed that the presence of immunosuppressive treatment -at the time of surgery- increased the risk of suffering complications with an odds ratio of 1.66, and the treatment with biliologics, with an odds ratio of 1.457. None of the patients -in whom a complication occurred- were on corticosteroids treatment at the time of surgery. Conclusion. In our experience, the frequency surgery-related complications are low, despite the increasing use of immunosuppressive drugs in our patients.

“A longitudinal study of healthcare workers’ surveillance during the ongoing COVID-19 Epidemics in Italy: is SARS-CoV-2 still a threat for the Health-care System?”

ABSTRACTObjectivesIn spring 2020, Northern Italy was the first area outside China to be involved in the SARS-CoV-2 pandemic. This observational study depicts SARS-CoV-2 prevalence and serological curves among first-line healthcare workers (HCWs) at Padua University Hospital (PdUH), North-East Italy.Method344 HCWs, working at the PdUH Emergency Department and Infectious Disease Unit, underwent a SARS-CoV-2 RNA nasopharyngeal swab with paired IgM and IgG antibody detection for 4 consecutive weeks. At every session, a questionnaire recorded symptoms, signs and recent contacts with SARS-CoV-2 patients. Positive cases were followed up for 5 months.ResultsTwenty-seven HCWs (7.84%) had positive serology (Abs) with 12 positive swabs during the study period. Two additional HCWs were positive by swab but without Abs. Fourteen cases (4%) had SARS-CoV-2 infection before the beginning of the study. An HCW with autoimmune disease showed false Ab results. 46% of individuals with Abs reported no symptoms, in accordance with previous population studies. Fever, nasal congestion, diarrhoea and contacts with SARS-CoV-2 individuals correlated to SARS-CoV-2 infection. 96% of Abs+ cases showed persistent positive antibodies 5 months later and none was re-infected.DiscussionCorrect use of PPEs and separate paths for positive/negative patients in the hospital can result in a low percentage of SARS-CoV-2 infections among HCWs, even in high risk settings. Frequent testing for SARS-CoV-2 with nasopharyngeal swabs is worthwhile, irrespective of HCWs’ symptoms, due to the lack of specificity together with the high percentage of asymptomatic cases. Further studies are needed to elucidate the neutralizing effect of SARS-CoV-2 antibodies.

The problem of coccidiosis in broiler chickens and laying hens: Selected control methods and alternative solutions

In industrial poultry production, especially in broiler chickens, coccidiosis, caused by Eimeria protozoa parasites in the digestive tract, continues to be a serious health and economic problem. In economic terms, the losses are mainly caused by the costs of prevention and treatment, as well as the reduced weight gain and reduced condition of the birds. Currently, the prophylactic program of this disease unit is mainly based on the use of chemotherapeutics. Another way to control coccidiosis is active immunoprophylaxis, based on the vaccination of chickens for fattening, and passive immunoprophylaxis, based on vaccination of the parent flock. An alternative, effective way to reduce the negative effects of protozoan infestation by Eimeria may be the use of herbs and their extracts, pre- and probiotics and betaine.